Fumarase deficiency

FH - fumarase deficiency, autosomal recessive

This test is available for the following conditions:

• Conditions > Renal / Nephrological > Fumarase deficiency

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Hereditary cancer panel
• Intellectual disability panel with genome wide CNV analysis
• Liver disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Mitochondrial disorders panel
• panel hereditary renalcancer (SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, PTEN, FLCN, MET, FH, BAP1)
• Skin disorders panel¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Analysis of one or more specific deletions

Remarks
No enzyme analysis will be performed

OMIM: 136850
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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